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Items: 1 to 20 of 29

1.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie-Ange Delrue, Valérie Drouin-Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin-Robinet, Julien Thevenon, Martine Doco-Fenzy, David Genevieve, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean-Louis Mandel, Amélie Piton
J Med Genet. 2014 Nov; 51(11): 724–736. Published online 2014 Aug 28. doi: 10.1136/jmedgenet-2014-102554
PMCID:
PMC4215287
AbstractArticlePDF–2.6M
2.
Functional consequences of Rett syndrome mutations on human MeCP2
Timur M. Yusufzai, Alan P. Wolffe
Nucleic Acids Res. 2000 Nov 1; 28(21): 4172–4179. doi: 10.1093/nar/28.21.4172
PMCID:
PMC113135
AbstractArticlePDF–540K
3.
Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.
O Lazo, M Contreras, M Hashmi, W Stanley, C Irazu, I Singh
Proc Natl Acad Sci U S A. 1988 Oct; 85(20): 7647–7651. doi: 10.1073/pnas.85.20.7647
PMCID:
PMC282249
SummaryPage BrowsePDF–1.0M
4.
Variable stability of a selectable provirus after retroviral vector gene transfer into human cells.
D J Jolly, R C Willis, T Friedmann
Mol Cell Biol. 1986 Apr; 6(4): 1141–1147. doi: 10.1128/mcb.6.4.1141
PMCID:
PMC367625
SummaryPage BrowsePDF–1.7M
5.
The fragile X syndrome in a large family. II. Psychological investigations.
H Veenema, T Veenema, J P Geraedts
J Med Genet. 1987 Jan; 24(1): 32–38. doi: 10.1136/jmg.24.1.32
PMCID:
PMC1049853
SummaryPage BrowsePDF–860K
6.
Quantitative comparison of FMR1 gene expression in normal and premutation alleles.
Y Feng, L Lakkis, D Devys, S T Warren
Am J Hum Genet. 1995 Jan; 56(1): 106–113.
PMCID:
PMC1801331
SummaryPage BrowsePDF–1.7M
7.
The XNP remodeler targets dynamic chromatin in Drosophila
Jonathan I. Schneiderman, Akiko Sakai, Sara Goldstein, Kami Ahmad
Proc Natl Acad Sci U S A. 2009 Aug 25; 106(34): 14472–14477. Published online 2009 Aug 11. doi: 10.1073/pnas.0905816106
PMCID:
PMC2725014
AbstractArticlePDF–1.7M
8.
Impaired inhibitory control of cortical synchronization in fragile X syndrome
Scott M. Paluszkiewicz, Jose Luis Olmos-Serrano, Joshua G. Corbin, Molly M. Huntsman
J Neurophysiol. 2011 Nov; 106(5): 2264–2272. Published online 2011 Jul 27. doi: 10.1152/jn.00421.2011
PMCID:
PMC3214096
AbstractArticle
9.
Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood
Leann E. Smith, Erin T. Barker, Marsha Mailick Seltzer, Leonard Abbeduto, Jan S. Greenberg
Am J Intellect Dev Disabil. Author manuscript; available in PMC 2013 Jan 1.
Published in final edited form as: Am J Intellect Dev Disabil. 2012 Jan; 117(1): 1–17. doi: 10.1352/1944-7558-117.1.1
PMCID:
PMC3388941
AbstractArticlePDF–76K
10.
Relative Efficiencies of Plasma Catechol Levels and Ratios for Neonatal Diagnosis of Menkes Disease
David S. Goldstein, Courtney S. Holmes, Stephen G. Kaler
Neurochem Res. Author manuscript; available in PMC 2012 Oct 21.
Published in final edited form as: Neurochem Res. 2009 Aug; 34(8): 1464–1468. Published online 2009 Feb 21. doi: 10.1007/s11064-009-9933-8
PMCID:
PMC3477515
AbstractArticlePDF–1.1M
11.
Seizures and X-linked intellectual disability
Roger E. Stevenson, Kenton R. Holden, R. Curtis Rogers, Charles E. Schwartz
Eur J Med Genet. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Eur J Med Genet. 2012 May; 55(5): 307–312. Published online 2012 Feb 8. doi: 10.1016/j.ejmg.2012.01.017
PMCID:
PMC3531238
AbstractArticlePDF–56K
12.
XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
Amélie Piton, Claire Redin, Jean-Louis Mandel
Am J Hum Genet. 2013 Aug 8; 93(2): 368–383. doi: 10.1016/j.ajhg.2013.06.013
Correction in:
Am J Hum Genet. 2013 Aug 8; 93(2): 406.
PMCID:
PMC3738825
AbstractArticlePDF–990K
13.
The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients
Kavi P. Patel, Thomas W. O’Brien, Sankarasubramon H. Subramony, Jonathan Shuster, Peter W. Stacpoole
Mol Genet Metab. Author manuscript; available in PMC 2014 Apr 29.
Published in final edited form as: Mol Genet Metab. 2012 Jul; 106(3): 385–394. doi: 10.1016/j.ymgme.2012.03.017
PMCID:
PMC4003492
AbstractArticlePDF–819K
14.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake
Nat Commun. 2024; 15: 365. Published online 2024 Jan 8. doi: 10.1038/s41467-023-44611-2
PMCID:
PMC10774338
AbstractArticlePDF–8.7M
15.
Variants in CUL4B are Associated with Cerebral Malformations
Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche, Jörg Müsebeck, Patrick Rump, Inge B. Mathijssen, Kristiina Avela, Mirja Somer, Fatma Doagu, Anju K. Philips, Anita Rauch, Alessandra Baumer, Krysta Voesenek, Karine Poirier, Jacqueline Vigneron, Daniel Amram, Sylvie Odent, Magdalena Nawara, Ewa Obersztyn, Jacek Lenart, Agnieszka Charzewska, Nicolas Lebrun, Ute Fischer, Willy M. Nillesen, Helger G. Yntema, Irma Järvelä, Hans-Hilger Ropers, Bert B.A. de Vries, Han G. Brunner, Hans van Bokhoven, F. Lucy Raymond, Michèl A.A.P. Willemsen, Jamel Chelly, Yue Xiong, A. James Barkovich, Vera M. Kalscheuer, Tjitske Kleefstra, Arjan P.M. de Brouwer
Hum Mutat. Author manuscript; available in PMC 2015 Oct 16.
Published in final edited form as: Hum Mutat. 2015 Jan; 36(1): 106–117. doi: 10.1002/humu.22718
PMCID:
PMC4608231
AbstractArticlePDF–892K
16.
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms
Lee-Chin Wong, Shekhar Singh, Hsin-Pei Wang, Chia-Jui Hsu, Su-Ching Hu, Wang-Tso Lee
Int J Mol Sci. 2019 Sep; 20(17): 4176. Published online 2019 Aug 26. doi: 10.3390/ijms20174176
PMCID:
PMC6747066
AbstractArticlePDF–2.4M
17.
BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex—a tumour suppressor or tumour-promoting factor?
Iga Jancewicz, Janusz A. Siedlecki, Tomasz J. Sarnowski, Elzbieta Sarnowska
Epigenetics Chromatin. 2019; 12: 68. Published online 2019 Nov 13. doi: 10.1186/s13072-019-0315-4
PMCID:
PMC6852734
AbstractArticlePDF–2.3M
18.
Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome
Hongwei Cheng, Chunyun Du, Yihong Zhang, Andrew F. James, Christopher E. Dempsey, Ana P. Abdala, Jules C. Hancox
J Mol Cell Cardiol. 2019 Oct; 135: 22–30. doi: 10.1016/j.yjmcc.2019.07.012
PMCID:
PMC6856717
AbstractArticle
19.
Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology
Adebola Enikanolaiye, Julie Ruston, Rong Zeng, Christine Taylor, Marijke Schrock, Christie M. Buchovecky, Jay Shendure, Elif Acar, Monica J. Justice
Genome Res. 2020 Apr; 30(4): 540–552. doi: 10.1101/gr.258400.119
PMCID:
PMC7197480
AbstractArticlePDF–2.8M
20.
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
Meng-Han Tsai, Alison M. Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E. Porter, Laura A. Jansen, Guillaume Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P. Almanza Fuerte, Michele G. Mehaffey, University of Washington Center for Mendelian Genomics, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim, Richard J. Leventer, Paul J. Lockhart, Kate Riney, John A. Damiano, Michael S. Hildebrand, Ghayda M. Mirzaa, William B. Dobyns, Samuel F. Berkovic, Ingrid E. Scheffer, Jin-Wu Tsai, Heather C. Mefford
Neuron. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Neuron. 2020 Apr 22; 106(2): 237–245.e8. Published online 2020 Feb 24. doi: 10.1016/j.neuron.2020.01.027
PMCID:
PMC7357395
AbstractArticlePDF–1.1M

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